G309R (p.Gly309Arg) variant of GAA (Lysosomal alpha-glucosidase)
G309R (p.Gly309Arg) in GAA (Lysosomal alpha-glucosidase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Glycogen storage disease, type II. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
G309R (p.Gly309Arg) variant details
- p.Gly309Arg
- rs543300039
- ClinGen CA273972
- NCI-TCGA Cosmic COSV1001
- cosmic curated COSV10512
- Pathogenic
- Glycogen storage disease, type II
- Missense
- Variant Prioritization Score for Impact Estimate 0.849
- REVEL 0.96
- CADD 29.50
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Pathogenic (Glycogen storage disease, type II)
- EBI: Pathogenic (in IOPD and LOPD)
- UniProt: Pathogenic (in IOPD and LOPD)
- Most common in the 1KG:IBS population (allele frequency 0.0048)
- Structural context available
- Cited in: Mutation profile of the GAA gene in 40 Italian patients with late onset glycogen storage disease type II. (PMID 16917947)
- Cited in: Glycogen storage disease type II: identification of a dinucleotide deletion and a common missense mutation in the… (PMID 9660056)